[A hereditary disorder of purine metabolism with a cerebral affection and megaloblastic anemia (Lesch-Nyhan syndrome)].
D000748:Anemia, Macrocytic / Q000150:complications*; D001264:Athetosis / Q000150:complications; D001856:Bone Marrow Examination; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009069:Movement Disorders / Q000150:complications; D010291:Paresis / Q000150:complications; D011687:Purines / Q000378:metabolism*; D012652:Self Mutilation / Q000150:complications; D014527:Uric Acid / Q000097:blood
D011687:Purines; D014527:Uric Acid
Een hereditaire purine-stofwisselingsstoornis met een cerebrale aandoening en megaloblastaire anemie (syndroom van Lesch en Nyhan)